Variant report

Variant	rs62376772
Chromosome Location	chr5:108527174-108527175
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs62376771	0.87[EUR][1000 genomes]
rs62376774	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62376775	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62376777	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62376778	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62376811	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62376812	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62376814	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72793018	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72798583	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72800009	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027163	chr5:108445447-108839913	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	esv2756048	chr5:108448101-108542101	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv1792067	chr5:108521224-108542526	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108481600-108535000	Weak transcription	Left Ventricle	heart
2	chr5:108496000-108532800	Weak transcription	Ovary	ovary
3	chr5:108503600-108540400	Weak transcription	Psoas Muscle	Psoas
4	chr5:108505000-108535200	Weak transcription	Pancreas	Pancrea
5	chr5:108513800-108529600	Weak transcription	Colon Smooth Muscle	Colon
6	chr5:108517200-108533000	Weak transcription	Fetal Kidney	kidney
7	chr5:108517400-108527600	Weak transcription	Fetal Intestine Small	intestine
8	chr5:108520200-108527200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr5:108520600-108530400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:108520800-108527600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr5:108521200-108528400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:108521400-108528200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:108522200-108529400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr5:108522600-108538000	Weak transcription	Aorta	Aorta
15	chr5:108522800-108527200	Weak transcription	Fetal Brain Female	brain
16	chr5:108523800-108527200	Weak transcription	Primary B cells from peripheral blood	blood
17	chr5:108523800-108527200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr5:108523800-108529600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr5:108523800-108531600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:108524000-108531200	Weak transcription	Primary T cells from cord blood	blood
21	chr5:108524000-108531800	Weak transcription	Fetal Stomach	stomach
22	chr5:108524200-108528600	Weak transcription	Lung	lung
23	chr5:108524400-108528200	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr5:108524600-108527800	Weak transcription	Fetal Intestine Large	intestine
25	chr5:108524600-108532400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr5:108524800-108530800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:108524800-108533600	Weak transcription	Fetal Muscle Leg	muscle
28	chr5:108524800-108535200	Weak transcription	Fetal Brain Male	brain
29	chr5:108525000-108531800	Weak transcription	Fetal Lung	lung
30	chr5:108525000-108532000	Weak transcription	Brain Substantia Nigra	brain
31	chr5:108525200-108532000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr5:108525200-108535200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr5:108526000-108528800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:108526200-108527600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr5:108526200-108527800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr5:108526200-108528800	Enhancers	Hela-S3	cervix
37	chr5:108526400-108527200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr5:108526400-108527200	Enhancers	Muscle Satellite Cultured Cells	--
39	chr5:108526400-108527200	Enhancers	HSMM	muscle
40	chr5:108526400-108527800	Enhancers	NHEK	skin
41	chr5:108526400-108528000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr5:108526400-108528200	Enhancers	HUVEC	blood vessel
43	chr5:108526400-108530000	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr5:108526400-108531600	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr5:108526400-108532200	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr5:108526600-108527200	Enhancers	NHLF	lung
47	chr5:108526600-108527400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:108526600-108527400	Enhancers	NHDF-Ad	bronchial
49	chr5:108526600-108527600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr5:108526600-108531600	Enhancers	HUES64 Cell Line	embryonic stem cell

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